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Diagnosis and the new genetics
1Myriad Diagnostic Services Inc, Salt Lake City.
Current Opinion in Biotechnology
|December 1, 1994
Summary
Advances in gene discovery enable new molecular genetic diagnostic tests for diseases like Huntington's, colon cancer, and Alzheimer's. This expands genetic analysis but raises concerns about potential misuse of genetic information.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Gene discovery has accelerated, creating new diagnostic opportunities.
- Previous discoveries include genes for cystic fibrosis, Duchenne muscular dystrophy, and fragile X syndrome.
- Recent findings include genes for Huntington's disease, familial colon cancers, and risk indicators for Alzheimer's, hypertension, and coronary heart disease.
Purpose of the Study:
- To highlight the impact of rapid gene discovery on clinical genetic analysis.
- To discuss the expansion of genetic testing capabilities.
- To address concerns regarding the ethical implications of molecular genetic technologies.
Main Methods:
- Review of recent gene discovery achievements.
- Analysis of the application of molecular genetic technologies in diagnostics.
- Discussion of ethical considerations in genetic testing.
Main Results:
- Significant expansion in the capacity for genetic analysis.
- Development of enhanced and novel diagnostic testing approaches.
- Identification of potential genetic risk indicators for major diseases.
Conclusions:
- Molecular genetic technologies offer substantial benefits for clinical diagnosis.
- Concerns exist regarding the potential misuse of genetic tests and information.
- Ethical considerations are crucial, especially for presymptomatic diagnosis and population screening.